Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study

Abstract

Knowledge about the parental origin of new mutations and the occurrence of germline mosaicism is important for estimating recurrence risks in Duchenne (DMD) and Becker muscular dystrophy (BMD). However, there are problems in resolving these issues partly because not all mutations can as yet be directly detected, and additionally because genetic ratios are… (More)
DOI: 10.1007/BF00197255

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@article{Essen1992ParentalOA, title={Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study}, author={Anthonie J. van Essen and Stephen J. Abbs and Montserrat Baiget and Egbert J. Bakker and Catherine Boileau and Christine Van Broeckhoven and Katharine M. D. Bushby and Angus J Clarke and Mireille Claustres and Angela Elvira Covone and Maurizio Ferrari and Alessandra Ferlini and Giuliana Galluzzi and T. Grimm and Caroline Grubben and Marc Jeanpierre and Helena A. K{\"a}{\"a}ri{\"a}inen and Sabina Liechti-Gallati and Marie A. Melis and Gert-J. B. van Ommen and Jaques E. Poncin and H. Scheffer and Marianne Schwartz and Astrid Speer and Manfred Stuhrmann and Christine Verellen-Dumoulin and Douglas E. Wilcox and Leo Pieter ten Kate}, journal={Human Genetics}, year={1992}, volume={88}, pages={249-257} }